Le diagnostic de SLA bulbaire reste difficile à un stade précoce de la maladie. L’objectif de ce travail est d’évaluer l’apport de l’électroneuromyogramme (ENMG) dans le diagnostic des SLA bulbaire ...en comparant les critères diagnostiques d’El Escorial (CEE), d’El Escorial modifiés (CEEM) et d’Awaji (CA).
Dans une étude rétrospective, les données cliniques et électrophysiologiques de 46 patients suivis pour une SLA à début bulbaire étaient recueillies à la première consultation et au premier ENMG. Tous ces patients avaient une SLA probable ou certaine au dernier suivi, selon les CEEM.
L’âge moyen était de 69ans (37–90ans) et le sex-ratio de 0,91. À la première évaluation, la sensibilité des CEE était de 19,5 %, celle des CEEM était de 28,2 % et celle des CA de 49,98 %. Les CA ont permis de porter un diagnostic de SLA certaine ou probable chez 10 patients supplémentaires par rapport aux autres critères diagnostiques.
Les CA tiennent d’avantage compte des résultats de l’ENMG et acceptent les fasciculation comme preuve « de dénervation active ». Ils sont plus sensibles que les critères précédents et permettent un diagnostic plus précoce des SLA à début bulbaire.
Diagnosis of bulbar ALS is difficult at the early stage of the disease. According to guidelines, early diagnosis is better in view to optimize the management of affected patients. To improve the sensitivity without losing specificity of the prior criteria, the Board of Awaji has proposed modified electrodiagnostic criteria for ALS. The aim of this study was to evaluate the contribution of needle electromyography in early diagnosis of bulbar ALS by comparing the El Escorial criteria (EEC), Revised El Escorial Criteria (R-EEC) and Awaji algorithm (AA).
In a retrospective study, we analysed clinical and electrophysiological data of 46 patients followed in our center for a bulbar-onset ALS seen for the first time between January 2007 and February 2011. All these patients had bulbar-onset ALS probable or certain at the last follow-up. All data were collected during the first clinical examination and the first electrophysiological study.
Mean age of the population was 69 (37–90years, sex ratio: 0.91). Using the EEC, 9 patients were diagnosed as definite or probable ALS at the first consultation. Applying the R-EEC, 13 patients were diagnosed as definite or probable ALS and using the AA, 23 patients were diagnosed as definite or probable ALS. The sensitivity of the EEC was 19.5%, the R-EEC was 28.2% and for AA was 49.98%.
AA are more sensitive in early diagnosis of bulbar ALS compared to R-EEC with the contribution of ENMG and when fasciculations are considered as evidence of spontaneous activity. Such an approach can contribute to accelerate an optimal management of the disease. AA are a breakthrough in the diagnosis of ALS especially in the bulbar-onset forms.
Faut-il passer outre l’opinion exprimée par un malade atteint de maladie neurodégénérative, lorsqu’il refuse un soin ou un traitement ? Nous soutenons qu’il faut au contraire admettre son choix et ...respecter tout patient dans la considération de sa personne, même lorsque ses capacités cognitives sont diminuées. Au-delà de l’obligation légale (loi du 4 mars 2002), nous proposons une réflexion sur les présupposés théoriques et les implications pratiques de ce choix. Notre objectif est de promouvoir une éthique du doute et de l’écoute, susceptible d’améliorer le travail des équipes soignantes et de diminuer l’angoisse des patients confrontés à des maladies incurables.
Should a patient be forced to accept a treatment, especially when suffering from a neurodegenerative disease? We argue that physicians, nurses and care givers should instead accept his or her choice in accordance with the principle that every patient is an autonomous person able to make a choice, even in case of declined cognition. Beside the legal obligation, we suggest a theoretical approach and focus on the practical impacts of the patient's decision. Our objective is to promote the value of ethical doubt and attentive listening to individual opinions, so as to improve the quality of the medical staff's work and reduce patients’ distress when affected by fatal diseases.
L’évaluation de la réponse neurologique après autogreffe pour un syndrome POEMS (polyneuropathie organomégalie endocrinopathie, protéine monoclonale et anomalies cutanées) est le plus souvent ...subjective dans les études publiées. Notre étude rétrospective a pour objectif de décrire la neuropathie du syndrome POEMS et d’évaluer l’efficacité de l’autogreffe de cellules souches hématopoïétiques périphériques (CSP), par des données cliniques et électrophysiologiques objectives.
Cinq patients ont reçu un traitement par autogreffe de CSP pour un syndrome POEMS. L’évaluation clinique initiale, à 6 et 12 mois, portait sur le score ONLS (Overall Neuropathy Limitation Scale) et MRC. L’analyse électroneuromyographique (ENMG) portait sur les nerfs médians, ulnaires, fibulaires communs, tibiaux postérieurs et suraux, avant et à un an de l’autogreffe.
L’âge moyen était 60,6ans (49–70). La durée de la maladie avant autogreffe était de 15,4 mois (2–33). Avant autogreffe, le score ONLS moyen était de 4,2 (1–10) et le MRC de 115,8/140 (74–140). Les scores moyens ONLS et MRC s’amélioraient chez tous les patients, respectivement à M6 et M12 : score ONLS : 3 (0–8) et 2,2 (0–7), score MRC : 118/140 (77–140) et 122,4/140 (80–140). Une amélioration significative sur les données ENMG était observée à un an aux membres supérieurs, sur les nerfs médians et ulnaires, pour les vitesses de conduction nerveuses (45,47 vs 34,41m/s ; p<0,001), les amplitudes motrices distales (5,94 vs 5,04mV ; p=0,004) et les vitesses de conduction sensitives (49,20 vs 43,20m/s ; p=0,001). Les amplitudes motrices distales restaient effondrées aux membres inférieurs sur les nerfs fibulaires et tibiaux (0,17 vs 0,41mV).
Notre étude montre une amélioration clinique et ENMG de la neuropathie périphérique chez tous les patients après autogreffe dans le cadre d’un syndrome POEMS. Un suivi prolongé est nécessaire pour évaluer les possibilités de récupération neurologique à long terme.
POEMS syndrome (polyneuropathy, organomegaly, endocrynopathy, M-protein, and skin changes) is a rare multisystem disease associated with plasma cell dyscrasia. The efficacy of autologous peripheral blood stem cell transplantation (auto-PBSCT) reported in case series has been mainly based on hematologic criteria and clinical recovery of peripheral neuropathy dysfunctions but has not been specifically evaluated. This retrospective study aimed to analyze the efficacy of auto-PBSCT on disability and electrophysiological patterns in patients with POEMS syndrome.
Five patients presenting with POEMS syndrome received auto-PBSCT. Disability was evaluated before treatment and at 6 and 12 months using the Overall Neuropathy Limitation Scale (ONLS) and MRC sumscore of 28 muscles. Nerve conduction studies were performed before and one year after treatment, on median, ulnar, fibular and tibial nerves.
Mean age was 60.6years (49–70). Disease duration between first symptoms and auto-PBSCT was 15.4months (2–33). Before auto-PBSCT, mean ONLS score was 4.2 (1–10) and mean MRC sumscore 115.8/140 (74–140). At M6, mean ONLS score decreased and mean MRC sumscore increased; both were improved in all patients at M12: mean ONLS score 3 (range 0–8) at M6 and 2.2 (range 0–7) at M12; mean MRC sumscore 118/140 (77–140) at M6 and 122.4/140 (80–140) at M12. Significant recovery in electrophysiological patterns was observed in all patients on ulnar and median nerves: before-after treatment differences were observed for motor conduction velocities (34.41 vs. 45.47m/s; P<0.001), distal CMAP amplitudes (5.04 vs. 5.96mV; P=0.004), and sensory conduction velocities (43.20 vs. 49.20m/s; P=0.001). Distal CMAP amplitude remained low in fibular and tibial nerves (0.41 vs. 0.17mV).
Clinical and electrophysiological improvement is obvious in POEMS syndrome peripheral neuropathy within one year after treatment with auto-PBSCT, undoubtedly resulting from extensive remyelinisation and axonal regeneration. Further studies are required to examine long-term outcome in patients with POEMS syndrome given auto-PBSCT.
Certains patients atteints de neuropathie motrice multifocale avec blocs de conduction (NMMBC) restent handicapés malgré un traitement par immunoglobulines intraveineuses (IgIV).
Nous rapportons le ...cas d’un patient de 72
ans atteint de NMMBC qui présentait un déficit moteur sévère des quatre membres et était dépendant aux IgIV. L’adjonction d’immunosuppresseurs aux IgIV (azathioprine, mycophenolate mofetyl, cyclophosphamide) ne modifia pas les déficits cliniques. Une association rituximab (RTX) et IgIV permit d’améliorer les déficits moteurs, évalués sur un score MRC et l’incapacité fonctionnelle, évaluée sur un score ONLS (Overall Neuropathy Limitation Scale), à long terme (37 mois).
Malgré l’amélioration de son état neurologique, le patient restait tout de même dépendant des IgIV. Le RTX pourrait être proposé en association et de façon prolongée dans certaines NMMBC sévères dépendantes des IgIV.
L’efficacité rapportée dans des études ouvertes doit être confirmée par un essai contrôlé et randomisé.
Some patients suffering from multifocal motor neuropathy with conduction blocks (MMNCB) are still disabled after treatment with intravenous immunoglobulin (IVIg).
We report the benefits of a combination of rituximab (RTX) and IVIg in the case of a 72-year-old man with MMNCB.
Despite an IVIg treatment, the patient had severe motor weakness of the four limbs which limited daily living activity. Azathioprine, mycophenolate mofetyl and cyclophosphamid did not improve the patient's status. Adjunction of rituximab to IVIg therapy increased muscle strength measured on MRC sum score and reduced disability evaluated on ONLS (Overall Neuropathy Limitation Scale) score in the long term (37 months). In spite of the improvement of his neurological status, the patient remained dependent on IVIg.
RTX could be proposed as a long-term complementary treatment for some severe cases of IVIg-dependent NMMBC. These results must be confirmed in a randomized controlled study.
Cannabis may have therapeutic benefits to relieve symptoms of amyotrophic lateral sclerosis (ALS) thanks to its pleiotropic pharmacological activity. This study is the first to present a large ...questionnaire-based survey about the “real-life” situation regarding cannabis use in the medical context in ALS patients in France. There were 129 respondents and 28 reported the use of cannabis (21.7%) to relieve symptoms of ALS. Participants mostly reported the use of cannabidiol (CBD) oil and cannabis weed and declared benefits both on motor (rigidity, cramps, fasciculations) and non-motor (sleep quality, pain, emotional state, quality of life, depression) symptoms and only eight reported minor adverse reactions (drowsiness, euphoria and dry mouth). Even if cannabis is mostly used outside medical pathways and could expose patients to complications (street and uncontrolled drugs, drug-drug interactions, adverse effects…), most of the participants reported “rational” consumption (legal cannabinoids, with only few combustion and adverse reactions). Despite some limitations, this study highlights the need for further research on the potential benefits of cannabis use for the management of ALS motor and non-motor symptoms. Indeed, there is an urgent need and call for and from patients to know more about cannabis and secure its use in a medical context.
Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive and fatal neurodegenerative disease characterized by progressive weakness of voluntary muscles of movement as well as those for ...swallowing, speech and respiration. In the absence of curative treatment, care can improve quality of life, prolong survival, and support ALS patients and their families, and also help them to anticipate and prepare for the end of life. Multidisciplinary management in tertiary centers is recommended in close collaboration with general practitioners, home carers and a dedicated health network. Patients’ follow-up deals mainly with motor impairment and physical disability, adaptation, nutrition and respiratory function. Involvement of palliative care as part of the multidisciplinary team management offers patients the possibility of discussing their end of life issues. This review summarizes the different aspects of ALS care, from delivering the diagnosis to the end of life, and the organization of its management.
Facioscapulohumeral dystrophy is a genetic disease characterized by progressive muscle weakness leading to a complex combination of postural instability, foot drop during swing and compensatory ...strategies during gait that have been related to an increased risk of falling. The aim is to assess the effect of tibialis anterior muscle weakness on foot drop and minimum toe clearance of patients with facioscapulohumeral dystrophy during gait.
Eight patients allocated to a subgroup depending on the severity of tibialis anterior muscle weakness, assessed by manual muscle testing (i.e., severe and mild weakness), and eight matched control participants underwent gait analysis at self-selected walking speeds.
Walking speed, for all facioscapulohumeral dystrophy patients, and step length, for patients with severe weakness only, were significantly decreased compared to control participants. Minimum toe clearance was similar across all groups, but its variability was increased only for patients with severe weakness. A greater foot drop was systematically observed for patients with severe weakness during swing and only in late swing for patients with mild weakness. Individual strategies to compensate for foot drop remain unclear and may depend on other muscle impairment variability.
Although all patients were able to control the average height of their foot trajectory during swing, patients with severe tibialis anterior muscle weakness exhibited increased foot drop and minimum toe clearance variability. Manual muscle testing is a simple, cheap and effective method to assess tibialis anterior muscle weakness and seems promising to identify facioscapulohumeral dystrophy patients with an increased risk of tripping.
•Foot drop during the whole swing is greater in patients with severe muscle weakness.•No significant difference in minimum toe clearance across all patients and controls.•Toe clearance variability is increased in patients with severe muscle weakness.•Manual muscle testing seems promising to identify patients at higher tripping risk.
La mesure de la fonction motrice (MFM) est une échelle d’évaluation fonctionnelle pour les maladies neuromusculaires. Elle a été validée sur une cohorte de 303 sujets âgés de six à 60 ans, dont un ...quart présentait une dystrophie musculaire de Duchenne.
La population suivie sur des consultations de myopathes adultes étant très différente de la population de validation de la MFM en âge et en sous-groupes de myopathies, notre objectif était de vérifier la validité de la MFM dans ce cadre.
Cent sujets ont été sélectionnés au hasard à la consultation du centre de référence pour les maladies neuromusculaires de Nice entre 2005 et 2007. Ont été recueillis la MFM, le testing musculaire des membres, de la face et du rachis, les scores de Brooke et de Vignos. La MFM et ses trois dimensions : D1 (station debout et transferts) ; D2 (motricité axiale et proximale) et D3 (motricité distale) ont été comparées aux autres scores par le coefficient de corrélation de Spearman et par analyse en composantes principales.
Les patients étaient âgés de 18 à 78 ans. La dystrophie myotonique de Steinert (DMS) et la dystrophie musculaire facio-scapulohumérale (FSH) étaient les diagnostics les « plus » représentés (30 % et 29 %). La MFM était significativement corrélée à tous les autres scores, excepté le score du
testing de la face. Ce dernier était toutefois corrélé à D1 et D2 chez les patients DMS et à D2 chez les patients FSH.
Nos résultats confirment la validité de la MFM dans une consultation adulte spécialisée dans les maladies neuromusculaires. Toutefois, le score de MFM et ses trois sous-scores D1, D2 et D3 peuvent être diversement corrélés aux scores de
testing de la face et du rachis selon le groupe pathologique. Pour cette raison, nous recommandons l’utilisation systématique des trois dimensions D1, D2 et D3, et, pour une analyse plus fine de la face et du tronc, de compléter l’évaluation clinique par un
testing musculaire.
The Motor Function Measure (MFM) is widely used to assess severity and progression of neuromuscular diseases. Validity was established in a group of patients aged 6–60 years with suspected or confirmed diagnosis of neuromuscular diseases, Duchenne Muscular Dystrophy being the most frequent diagnosis in the population tested.
Our aim was to check the validity of the MFM in a hospital department specialized in neuromuscular diseases in the follow-up of adult out-patients presenting a myopathy, such population being very different from the MFM validation group in terms of age and sub-groups of myopathy.
One hundred patients were randomly selected in the Reference Center for Neuromuscular Diseases of Nice (France) between 2005 and 2007. Were collected: the MFM score, manual muscular testing (MMT) of lower and upper limb, face and spine, Brooke and Vignos scores. MFM and its three dimensions D1 (standing position and transfers), D2 (axial and proximal limb motor function) and D3 (distal motor function) were compared to the other scores with the Spearman Correlation Coefficient and the Principal Component Analysis.
Patients were aged 18–78 years. The most frequent diagnoses were Steinert's Muscular Dystrophy (DM1) and Facio-ScapuloHumeral Dystrophy (FSHD) (30% and 29%). MFM was significantly correlated to all other scores except for Face MMT. However, Face MMT was correlated to D1 and D2 in DM1 patients and to D2 in FSHD patients.
Our results confirm the validity of the MFM in adult patients with muscular diseases. However, the MFM global score and its three dimensions D1, D2 and D3 are variously correlated with the facial and axial muscle testing. Therefore, we recommend using separately the three dimensions D1, D2, D3 (rather than the global score) and, if more accuracy is required, the facial and axial muscle testing.
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